Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55572
Gene name	FAD dependent oxidoreductase domain containing 1
Gene symbol	FOXRED1
Synonyms (NCBI Gene)	FP634H17MC1DN19
Chromosome	11
Chromosome location	11q24.2
Summary	This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138061928	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs145888229	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606829	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs267606830	A>C,G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs373075574	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs387907087	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398124308	->AGTG	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs536400690	G>C	Likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs544236849	C>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs749110767	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs758966293	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs768720209	G>A	Pathogenic	Intron variant, upstream transcript variant, splice acceptor variant, genic upstream transcript variant, 5 prime UTR variant
rs863224019	A>G	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs863224020	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555063749	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1555066709	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained

115

Show/Hide all (115)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032389	hsa-let-7b-5p	Proteomics	18668040
MIRT042937	hsa-miR-324-3p	CLASH	23622248
MIRT1003709	hsa-miR-1827	CLIP-seq
MIRT1003710	hsa-miR-1914	CLIP-seq
MIRT1003711	hsa-miR-2682	CLIP-seq
MIRT1003712	hsa-miR-30a	CLIP-seq
MIRT1003713	hsa-miR-30b	CLIP-seq
MIRT1003714	hsa-miR-30c	CLIP-seq
MIRT1003715	hsa-miR-30d	CLIP-seq
MIRT1003716	hsa-miR-30e	CLIP-seq
MIRT1003717	hsa-miR-3124-3p	CLIP-seq
MIRT1003718	hsa-miR-3150a-3p	CLIP-seq
MIRT1003719	hsa-miR-3175	CLIP-seq
MIRT1003720	hsa-miR-4257	CLIP-seq
MIRT1003721	hsa-miR-4434	CLIP-seq
MIRT1003722	hsa-miR-4493	CLIP-seq
MIRT1003723	hsa-miR-449c	CLIP-seq
MIRT1003724	hsa-miR-4516	CLIP-seq
MIRT1003725	hsa-miR-4639-5p	CLIP-seq
MIRT1003726	hsa-miR-4716-3p	CLIP-seq
MIRT1003727	hsa-miR-4723-5p	CLIP-seq
MIRT1003728	hsa-miR-4728-5p	CLIP-seq
MIRT1003729	hsa-miR-4763-5p	CLIP-seq
MIRT1003730	hsa-miR-550a	CLIP-seq
MIRT1003731	hsa-miR-939	CLIP-seq
MIRT1997513	hsa-miR-101	CLIP-seq
MIRT1997514	hsa-miR-1278	CLIP-seq
MIRT1997515	hsa-miR-15a	CLIP-seq
MIRT1997516	hsa-miR-15b	CLIP-seq
MIRT1997517	hsa-miR-16	CLIP-seq
MIRT1997518	hsa-miR-1910	CLIP-seq
MIRT1997519	hsa-miR-195	CLIP-seq
MIRT1997520	hsa-miR-2110	CLIP-seq
MIRT1997521	hsa-miR-424	CLIP-seq
MIRT1997522	hsa-miR-4271	CLIP-seq
MIRT1997523	hsa-miR-4426	CLIP-seq
MIRT1997524	hsa-miR-4647	CLIP-seq
MIRT1997525	hsa-miR-4662b	CLIP-seq
MIRT1997526	hsa-miR-4667-5p	CLIP-seq
MIRT1997527	hsa-miR-4700-5p	CLIP-seq
MIRT1997528	hsa-miR-4725-3p	CLIP-seq
MIRT1997529	hsa-miR-497	CLIP-seq
MIRT1997530	hsa-miR-545	CLIP-seq
MIRT1997531	hsa-miR-671-5p	CLIP-seq
MIRT2231153	hsa-miR-1343	CLIP-seq
MIRT1997518	hsa-miR-1910	CLIP-seq
MIRT2231154	hsa-miR-4676-5p	CLIP-seq
MIRT2231155	hsa-miR-4786-3p	CLIP-seq
MIRT2231156	hsa-miR-575	CLIP-seq
MIRT1997513	hsa-miR-101	CLIP-seq
MIRT1997514	hsa-miR-1278	CLIP-seq
MIRT1997520	hsa-miR-2110	CLIP-seq
MIRT1997522	hsa-miR-4271	CLIP-seq
MIRT1997523	hsa-miR-4426	CLIP-seq
MIRT1997524	hsa-miR-4647	CLIP-seq
MIRT1997525	hsa-miR-4662b	CLIP-seq
MIRT1997526	hsa-miR-4667-5p	CLIP-seq
MIRT1997527	hsa-miR-4700-5p	CLIP-seq
MIRT1997528	hsa-miR-4725-3p	CLIP-seq
MIRT1997531	hsa-miR-671-5p	CLIP-seq
MIRT1997513	hsa-miR-101	CLIP-seq
MIRT2535098	hsa-miR-1197	CLIP-seq
MIRT1997514	hsa-miR-1278	CLIP-seq
MIRT2535099	hsa-miR-148a	CLIP-seq
MIRT2535100	hsa-miR-148b	CLIP-seq
MIRT2535101	hsa-miR-152	CLIP-seq
MIRT1997515	hsa-miR-15a	CLIP-seq
MIRT1997516	hsa-miR-15b	CLIP-seq
MIRT1997517	hsa-miR-16	CLIP-seq
MIRT2535102	hsa-miR-1825	CLIP-seq
MIRT1997519	hsa-miR-195	CLIP-seq
MIRT1997520	hsa-miR-2110	CLIP-seq
MIRT2535103	hsa-miR-3150b-3p	CLIP-seq
MIRT1997521	hsa-miR-424	CLIP-seq
MIRT1997522	hsa-miR-4271	CLIP-seq
MIRT2535104	hsa-miR-4324	CLIP-seq
MIRT1997523	hsa-miR-4426	CLIP-seq
MIRT1997524	hsa-miR-4647	CLIP-seq
MIRT1997525	hsa-miR-4662b	CLIP-seq
MIRT1997526	hsa-miR-4667-5p	CLIP-seq
MIRT2231154	hsa-miR-4676-5p	CLIP-seq
MIRT1997527	hsa-miR-4700-5p	CLIP-seq
MIRT1997528	hsa-miR-4725-3p	CLIP-seq
MIRT1003729	hsa-miR-4763-5p	CLIP-seq
MIRT2535105	hsa-miR-4784	CLIP-seq
MIRT1997529	hsa-miR-497	CLIP-seq
MIRT1997530	hsa-miR-545	CLIP-seq
MIRT2231156	hsa-miR-575	CLIP-seq
MIRT1997531	hsa-miR-671-5p	CLIP-seq
MIRT1997513	hsa-miR-101	CLIP-seq
MIRT1997514	hsa-miR-1278	CLIP-seq
MIRT2535099	hsa-miR-148a	CLIP-seq
MIRT2535100	hsa-miR-148b	CLIP-seq
MIRT2535101	hsa-miR-152	CLIP-seq
MIRT1997515	hsa-miR-15a	CLIP-seq
MIRT1997516	hsa-miR-15b	CLIP-seq
MIRT1997517	hsa-miR-16	CLIP-seq
MIRT2535102	hsa-miR-1825	CLIP-seq
MIRT1997519	hsa-miR-195	CLIP-seq
MIRT1997520	hsa-miR-2110	CLIP-seq
MIRT2681157	hsa-miR-2467-3p	CLIP-seq
MIRT2681158	hsa-miR-3678-3p	CLIP-seq
MIRT1997521	hsa-miR-424	CLIP-seq
MIRT1997522	hsa-miR-4271	CLIP-seq
MIRT1997523	hsa-miR-4426	CLIP-seq
MIRT1997524	hsa-miR-4647	CLIP-seq
MIRT1997525	hsa-miR-4662b	CLIP-seq
MIRT1997526	hsa-miR-4667-5p	CLIP-seq
MIRT2231154	hsa-miR-4676-5p	CLIP-seq
MIRT1997527	hsa-miR-4700-5p	CLIP-seq
MIRT1997528	hsa-miR-4725-3p	CLIP-seq
MIRT1997529	hsa-miR-497	CLIP-seq
MIRT1997530	hsa-miR-545	CLIP-seq
MIRT2231156	hsa-miR-575	CLIP-seq
MIRT1997531	hsa-miR-671-5p	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	20858599
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	25678554
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	25678554

MIM	HGNC	e!Ensembl
613622	26927	ENSG00000110074

Q96CU9

Protein name

FAD-dependent oxidoreductase domain-containing protein 1 (EC 1.-.-.-)

Protein function

Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:20858599, PubMed:25678554). Involved in mid-late stages of complex I assembly (PubMed:25678554). {ECO:0000269|PubMed:20858599, ECO:0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01266	DAO	65 → 455	FAD dependent oxidoreductase	Domain

Sequence

MIRRVLPHGMGRGLLTRRPGTRRGGFSLDWDGKVSEIKKKIKSILPGRSCDLLQDTSHLP
PEHSDVVIVGGGVLGLSVAYWLKKLESRRGAIRVLVVERDHTYSQASTGLSVGGICQQFS
LPENIQLSLFSASFLRNINEYLAVVDAPPLDLRFNPSGYLLLASEKDAAAMESNVKVQRQ
EGAKVSLMSPDQLRNKFPWINTEGVALASYGMEDEGWFDPWCLLQGLRRKVQSLGVLFCQ
GEVTRFVSSSQRMLTTDDKAVVLKRIHEVHVKMDRSLEYQPVECAIVINAAGAWSAQIAA
LAGVGEGPPGTLQGTKLPVEPRKRYVYVWHCPQGPGLETPLVADTSGAYFRREGLGSNYL
GGRSPTEQEEPDPANLEVDHDFFQDKVWPHLALRVPAFETLKVQSAWAGYYDYNTFDQNG
VVGPHPLVVNMYFATGFSGHGLQQAPGIGRAVAEMVLKGRFQTIDLSPFLFTRFYLGEKI
QENNII

Sequence length

486

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FOXRED1-related disorder	Pathogenic	rs267606829	RCV003390625	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leigh syndrome	Likely pathogenic; Pathogenic	rs398124308, rs1296948086, rs267606829, rs768720209, rs758408106, rs1555066709, rs1189650128	RCV000586362 RCV001334927 RCV001194045 RCV006263748 RCV003226822 RCV004586826 RCV001249212 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial complex I deficiency	Likely pathogenic; Pathogenic	rs398124308	RCV000190588	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs398124308	RCV000778312	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 19	Likely pathogenic; Pathogenic	rs398124308, rs267606829, rs267606830, rs754952690, rs768720209, rs387907087, rs749110767, rs1555066709, rs1950986906, rs780131344	RCV001197098 RCV000000015 RCV000000016 RCV002283347 RCV001090003 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs398124308	RCV005357523	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial encephalopathy	Pathogenic	rs1591548857	RCV001281696	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL ENCEPHALOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (66)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33482886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39684297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39684297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	20818383, 20858599, 22499348, 27215383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Electron Transport Chain Deficiencies, Mitochondrial	Mitochondrial Electron Transport Chain Deficiencies	CTD_human_DG	20818383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27215383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27215383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31434271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30723688, 31065540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	20818383, 25678554, 26022995, 27215383, 30392038, 31065540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	25681241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	30392038, 31273716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	20818383, 25678554, 26022995, 27215383, 30392038, 31065540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	20818383, 25678554, 26022995, 27215383, 30392038, 31065540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	20818383, 25678554, 26022995, 27215383, 30392038, 31065540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	20818383, 25678554, 26022995, 27215383, 30392038, 31065540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	20818383, 25678554, 26022995, 27215383, 30392038, 31065540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	20818383, 20858599, 27215383	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	20858599		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	21203893, 27604308, 9463323		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	CLINVAR_DG	22200994		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	25681241	Stimulate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	Mitochondrial Complex Deficiency	UNIPROT_DG	20818383, 20858599, 25678554		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	CTD_human_DG	20818383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	20858599		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	20858599	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	CTD_human_DG	20858599		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	20858599, 25681241	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	20858599	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	CTD_human_DG	20818383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	20818383, 25678554, 26022995, 27215383, 30392038, 31065540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31273716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oxidative Phosphorylation Deficiencies	Oxidative Phosphorylation Deficiency	CTD_human_DG	20818383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	27215383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

FOXRED1 (FAD dependent oxidoreductase domain containing 1)